Oncogene Concatenated Enriched Amplicon Nanopore Sequencing for rapid, accurate, and affordable somatic mutation detection.
Oncogene Concatenated Enriched Amplicon Nanopore Sequencing for rapid, accurate, and affordable somatic mutation detection.
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DOI：
10.1186/s13059-021-02449-1
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发表时间：
2021-09-06
期刊：
影响因子：
12.3
通讯作者：
Zhang DY
中科院分区：
文献类型：
--
作者：
Thirunavukarasu D;Cheng LY;Song P;Chen SX;Borad MJ;Kwong L;James P;Turner DJ;Zhang DY
我们开发了癌基因串联富集扩增子纳米孔测序（OCEANS）方法，其中扩增具有低变体等位基因频率（VAF）的变体，随后串联用于纳米孔测序。OCEANS允许准确检测体细胞突变，VAF检测限在0.05%至1%之间。我们构建了4个不同的多基因OCEANS组，靶向急性髓性白血病、黑色素瘤、非小细胞肺癌和肝细胞癌中的复发性突变，并在临床样本中验证它们。通过展示使用纳米孔测序检测低VAF单核苷酸变异突变，OCEANS准备启用当天临床测序面板。在线版本包含补充材料，可在（10.1186/s13059-021-02449-1）获得。
We develop the Oncogene Concatenated Enriched Amplicon Nanopore Sequencing (OCEANS) method, in which variants with low variant allele frequency (VAFs) are amplified and subsequently concatenated for Nanopore Sequencing. OCEANS allows accurate detection of somatic mutations with VAF limits of detection between 0.05 and 1%. We construct 4 distinct multi-gene OCEANS panels targeting recurrent mutations in acute myeloid leukemia, melanoma, non-small- cell lung cancer, and hepatocellular carcinoma and validate them on clinical samples. By demonstrating detection of low VAF single nucleotide variant mutations using Nanopore Sequencing, OCEANS is poised to enable same-day clinical sequencing panels. The online version contains supplementary material available at (10.1186/s13059-021-02449-1).
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影响因子：
28.1
作者：
通讯作者：
--
影响因子：
3.7
作者：
Engler, Carola;Kandzia, Romy;Marillonnet, Sylvestre
通讯作者：
Marillonnet, Sylvestre
影响因子：
23.8
作者：
Luo, Ruibang;Wong, Chak-Lim;Lam, Tak-Wah
通讯作者：
Lam, Tak-Wah
DOI：
10.1093/dnares/dsx027
发表时间：
2017-12-01
期刊：
DNA research : an international journal for rapid publication of reports on genes and genomes
影响因子：
--
作者：
Suzuki A;Suzuki M;Mizushima-Sugano J;Frith MC;Makalowski W;Kohno T;Sugano S;Tsuchihara K;Suzuki Y
通讯作者：
Suzuki Y
影响因子：
48
作者：
Karst, Soren M.;Ziels, Ryan M.;Albertsen, Mads
通讯作者：
Albertsen, Mads